|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
MGD |
|
|
|
|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
HPO |
|
|
|
|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
BEFREE |
Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal-recessive disorder, characterized by massive proteinuria in utero and nephrosis at birth.
|
9660941 |
1998 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
LHGDN |
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
|
11854170 |
2002 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
LHGDN |
A missense mutation in the nephrin gene impairs membrane targeting.
|
12324903 |
2002 |
|
Nephrotic Syndrome
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
|
11854170 |
2002 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fifteen episodes of recurrent nephrotic syndrome occurred in 13 (25%) of 51 grafts transplanted to 45 Finnish children with NPHS1.
|
11884936 |
2002 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
|
11854170 |
2002 |
|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
LHGDN |
Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach.
|
12495287 |
2003 |
|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
LHGDN |
Expression of nephrin, podocin, alpha-actinin, and WT1 in children with nephrotic syndrome.
|
12961083 |
2003 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Nephrotic syndrome (NS) in infancy includes NS of Finnish type (mutation of the nephrin gene), diffuse mesangial sclerosis (idiopathic or linked to WT1 mutation), idiopathic NS, most often steroid resistant, and NS related to infections during pregnancy (virus, syphilis, toxoplasmosis).
|
15682315 |
2005 |
|
Nephrotic Syndrome
|
0.400 |
Therapeutic
|
group |
RGD |
Glomerular abundance of nephrin and podocin in experimental nephrotic syndrome: different effects of antiproteinuric therapies.
|
15942045 |
2005 |
|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
LHGDN |
Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome.
|
16968734 |
2006 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Because of its prognostic relevance, we advocate molecular genetic testing of LAMB2 in any case of prenatally detected nephrotic syndrome with negative results of NPHS1 mutational screening, especially in the presence of the typical sonomorphologic findings of the kidneys and the development of oligohydramnios.
|
16450351 |
2006 |
|
Nephrotic Syndrome
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type.
|
16518627 |
2006 |
|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
BEFREE |
The NPHS1 kidneys do not express nephrin, and antibodies against this major glomerular filter protein have been observed in NPHS1 children with recurrent NS.
|
17519780 |
2007 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
BEFREE |
NPHS2 mutations were the most frequent cause of nephrotic syndrome among both families with congenital nephrotic syndrome (39.1%) and infantile nephrotic syndrome (35.3%), whereas NPHS1 mutations were solely found in patients with congenital onset.
|
17371932 |
2007 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
LHGDN |
A familial childhood-onset relapsing nephrotic syndrome.
|
17290294 |
2007 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
LHGDN |
The results demonstrate that NPHS1 and NPHS2 mutations are also present in Chinese sporadic NS patients, suggesting that genetic changes of nephrin and podocin may play pathogenetic roles in some patients with sporadic steroid resistant NS.
|
17211152 |
2007 |
|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
BEFREE |
Mutational analyses of NPHS1 and NPHS2 were performed to verify this hypothesis in sporadic nephrotic syndrome (NS) patients.
|
17211152 |
2007 |
|
Nephrotic Syndrome
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
|
18503012 |
2008 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
LHGDN |
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
|
18503012 |
2008 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.
|
19406966 |
2009 |
|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
BEFREE |
Mutation analysis was carried out by direct sequencing of the NPHS1 and NPHS2 genes in 145 nephrotic syndrome (NS) patients.
|
22565185 |
2012 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
BEFREE |
To determine the frequency of inherited NS, 62 cases (representing 49 families with NS) from Saudi Arabia were screened for mutations in NPHS1, NPHS2, LAMB2, PLCE1, CD2AP, MYO1E, WT1, PTPRO and Nei endonuclease VIII-like 1 (NEIL1).
|
23595123 |
2013 |